Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia

Familial hypercholesterolemia (FH) is a heritable condition of severely elevated LDL cholesterol, caused predominantly by autosomal codominant mutations in the LDL receptor gene (LDLR). In providing a molecular diagnosis for FH, the current procedure often includes targeted next-generation sequencin...

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Detalles Bibliográficos
Autores principales: Iacocca, Michael A., Wang, Jian, Dron, Jacqueline S., Robinson, John F., McIntyre, Adam D., Cao, Henian, Hegele, Robert A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The American Society for Biochemistry and Molecular Biology 2017
Materias:
Patient-Oriented and Epidemiological Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665663/
https://www.ncbi.nlm.nih.gov/pubmed/28874442
http://dx.doi.org/10.1194/jlr.D079301

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